MCID: FML015
MIFTS: 41

Familial Nephrotic Syndrome

Categories: Blood diseases, Endocrine diseases, Genetic diseases, Immune diseases, Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Familial Nephrotic Syndrome

MalaCards integrated aliases for Familial Nephrotic Syndrome:

Name: Familial Nephrotic Syndrome 38 12 25 15
Congenital Nephrotic Syndrome 12 76 25
Nephrosis, Congenital 44 73
Finnish Congenital Nephrotic Syndrome 73

Classifications:



External Ids:

Disease Ontology 12 DOID:2590
ICD10 33 N04
MeSH 44 C535761
NCIt 50 C35337
SNOMED-CT 68 48796009

Summaries for Familial Nephrotic Syndrome

Disease Ontology : 12 A nephrotic syndrome that has material basis in genetic mutations.

MalaCards based summary : Familial Nephrotic Syndrome, also known as congenital nephrotic syndrome, is related to nephrotic syndrome, type 1 and diffuse mesangial sclerosis, and has symptoms including edema An important gene associated with Familial Nephrotic Syndrome is PLCE1 (Phospholipase C Epsilon 1), and among its related pathways/superpathways are Cell junction organization and Primary Focal Segmental Glomerulosclerosis FSGS. Affiliated tissues include Kidney, kidney and thyroid, and related phenotypes are cardiovascular system and renal/urinary system

Wikipedia : 76 Congenital nephrotic syndrome is an inherited disorder characterized by protein in the urine and... more...

Related Diseases for Familial Nephrotic Syndrome

Diseases in the Nephrotic Syndrome family:

Nephrotic Syndrome, Type 1 Nephrotic Syndrome, Type 4
Nephrotic Syndrome, Type 2 Nephrotic Syndrome, Type 3
Nephrotic Syndrome, Type 6 Nephrotic Syndrome, Type 7
Nephrotic Syndrome, Type 8 Nephrotic Syndrome, Type 9
Nephrotic Syndrome, Type 10 Nephrotic Syndrome, Type 11
Nephrotic Syndrome, Type 12 Nephrotic Syndrome, Type 13
Nephrotic Syndrome, Type 14 Nephrotic Syndrome, Type 15
Nephrotic Syndrome, Type 16 Familial Nephrotic Syndrome

Diseases related to Familial Nephrotic Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 70)
# Related Disease Score Top Affiliating Genes
1 nephrotic syndrome, type 1 32.7 ACTN4 CD2AP NPHS1 NPHS2 WT1
2 diffuse mesangial sclerosis 30.0 NPHS1 NPHS2 PLCE1 WT1
3 nephrotic syndrome 29.9 ACTN4 CD2AP NPHS1 NPHS2 PLCE1 WT1
4 lipoid nephrosis 29.8 CD2AP NPHS1 NPHS2
5 focal segmental glomerulosclerosis 1 29.7 ACTN4 NPHS1
6 denys-drash syndrome 29.6 CD2AP NPHS1 NPHS2 WT1
7 kidney disease 28.4 ACTN4 CD2AP CRB2 NPHS1 NPHS2 TRPC6
8 focal segmental glomerulosclerosis 27.9 ACTN4 CD2AP CRB2 KIRREL2 NPHS1 NPHS2
9 congenital nephrotic syndrome finnish type 12.5
10 pierson syndrome 12.1
11 interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital 11.7
12 microcoria, congenital 11.0
13 thrombosis 10.1
14 hypothyroidism 10.1
15 sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis 10.1 CD2AP NPHS2
16 sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis 10.1 PLCE1 WT1
17 kidney hypertrophy 10.1 NPHS1 NPHS2
18 nail-patella syndrome 10.0 CD2AP NPHS2
19 nephrosclerosis 10.0 NPHS1 NPHS2
20 atrial septal defect 3 10.0 CD2AP NPHS1 NPHS2
21 hypoparathyroidism, sensorineural deafness, and renal disease 10.0 ACTN4 NPHS1 NPHS2
22 membranous nephropathy 10.0 CD2AP NPHS1 NPHS2
23 microcephaly 10.0
24 galloway-mowat syndrome 10.0 ACTN4 NPHS1 NPHS2
25 crescentic glomerulonephritis 10.0 NPHS2 WT1
26 urinary system disease 9.9 NPHS1 NPHS2 WT1
27 iga glomerulonephritis 9.9 NPHS1 NPHS2
28 wilms tumor 1 9.9 NPHS1 NPHS2 WT1
29 systemic lupus erythematosus 9.9
30 gonadal dysgenesis 9.9
31 lupus erythematosus 9.9
32 cytomegalovirus infection 9.9
33 nephrotic syndrome, type 6 9.9 NPHS1 NPHS2 PLCE1 WT1
34 end stage renal failure 9.9 NPHS1 NPHS2 PLCE1 WT1
35 chronic kidney failure 9.8 ACTN4 NPHS1 NPHS2 WT1
36 thrombophilia due to thrombin defect 9.7
37 tracheoesophageal fistula with or without esophageal atresia 9.7
38 epileptic encephalopathy, early infantile, 3 9.7
39 lipoprotein glomerulopathy 9.7
40 congenital disorder of glycosylation, type in 9.7
41 epileptic encephalopathy, early infantile, 4 9.7
42 alpha-1-antitrypsin deficiency 9.7
43 cataract 9.7
44 neutropenia 9.7
45 umbilical hernia 9.7
46 esophageal atresia 9.7
47 pyloric stenosis 9.7
48 congenital toxoplasmosis 9.7
49 46 xy gonadal dysgenesis 9.7
50 carbuncle 9.7

Graphical network of the top 20 diseases related to Familial Nephrotic Syndrome:



Diseases related to Familial Nephrotic Syndrome

Symptoms & Phenotypes for Familial Nephrotic Syndrome

UMLS symptoms related to Familial Nephrotic Syndrome:


edema

MGI Mouse Phenotypes related to Familial Nephrotic Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.5 ACTN4 CD2AP CRB2 NPHS2 PLCE1 TRPC6
2 renal/urinary system MP:0005367 9.02 ACTN4 CD2AP NPHS1 NPHS2 WT1

Drugs & Therapeutics for Familial Nephrotic Syndrome

Search Clinical Trials , NIH Clinical Center for Familial Nephrotic Syndrome

Cochrane evidence based reviews: nephrosis, congenital

Genetic Tests for Familial Nephrotic Syndrome

Anatomical Context for Familial Nephrotic Syndrome

MalaCards organs/tissues related to Familial Nephrotic Syndrome:

41
Kidney, Thyroid, Lung, Placenta, Pituitary, Cortex
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Familial Nephrotic Syndrome:
# Tissue Anatomical CompartmentCell Relevance
1 Kidney Podocyte Layer Podocytes Affected by disease, potential therapeutic candidate

Publications for Familial Nephrotic Syndrome

Articles related to Familial Nephrotic Syndrome:

(show top 50) (show all 229)
# Title Authors Year
1
Auto-immune Thyroiditis in an Infant Masquerading as Congenital Nephrotic Syndrome. ( 30128632 )
2018
2
Management of children with congenital nephrotic syndrome: challenging treatment paradigms. ( 30215773 )
2018
3
Infants with congenital nephrotic syndrome have comparable outcomes to infants with other renal diseases. ( 30374605 )
2018
4
Bilateral pulmonary thrombosis in a newborn with congenital nephrotic syndrome. ( 29469202 )
2018
5
Treatment and outcome of congenital nephrotic syndrome. ( 29474669 )
2018
6
Cyclosporine A responsive congenital nephrotic syndrome with single heterozygous variants in NPHS1, NPHS2, and PLCE1. ( 29663071 )
2018
7
Long-term outcome of congenital nephrotic syndrome after kidney transplantation in Japan. ( 29185126 )
2018
8
Nephron development and extrarenal features in a child with congenital nephrotic syndrome caused by null LAMB2 mutations. ( 28683731 )
2017
9
Erratum to: Nephron development and extrarenal features in a child with congenital nephrotic syndrome caused by null LAMB2 mutations. ( 28818041 )
2017
10
Novel NPHS1 Gene Mutations in two Chinese Infants with Congenital Nephrotic Syndrome. ( 28160156 )
2017
11
Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome. ( 28392951 )
2017
12
Vomiting in an infant with congenital nephrotic syndrome: Questions. ( 27757585 )
2017
13
Vomiting in infant with congenital nephrotic syndrome: Answers. ( 27757586 )
2017
14
The etiology of congenital nephrotic syndrome: current status and challenges. ( 26961288 )
2016
15
Simultaneous mutations of LAMB2 and NPHP1genes in a Chinese girl with isolated congenital nephrotic syndrome: a case report. ( 27004562 )
2016
16
Novel NPHS1 gene mutations in a Chinese family with congenital nephrotic syndrome. ( 27019444 )
2016
17
Congenital nephrotic syndrome in an infant with ALG1-congenital disorder of glycosylation. ( 27325525 )
2016
18
Congenital Nephrotic Syndrome - Finish Type. ( 27594755 )
2016
19
Sonographic Diagnosis in a Rare Aetiology of Neonatal Scrotal Swellings: A Case Report of Congenital Nephrotic Syndrome. ( 27757175 )
2016
20
Congenital nephrotic syndrome with dysmorphic features and death in early infancy: Answers. ( 25956699 )
2016
21
Recurrence of nephrotic syndrome following kidney transplantation in a child with congenital nephrotic syndrome. ( 26787584 )
2016
22
Congenital nephrotic syndrome with dysmorphic features and death in early infancy: Questions. ( 25947087 )
2016
23
Domiciliary administration of intravenous albumin in congenital nephrotic syndrome. ( 26248471 )
2015
24
AJKD Atlas of Renal Pathology: Congenital Nephrotic Syndrome of Finnish Type. ( 26300201 )
2015
25
Spectrum of steroid-resistant and congenital nephrotic syndrome in children: the PodoNet registry cohort. ( 25635037 )
2015
26
Novel NPHS1 splice site mutations in a Chinese child with congenital nephrotic syndrome. ( 25729976 )
2015
27
Diagnosis of peritoneal-pleural communication by peritoneography with (99m)Tc-sulfur colloid in a 3-year-old girl with congenital nephrotic syndrome of the Finnish type. ( 24816127 )
2015
28
Bioinformatics evaluation of NPHS2 deletion mutation associated with congenital nephrotic syndrome in a consanguineous Pakistani family. ( 25143137 )
2015
29
Response to childhood immunizations in congenital nephrotic syndrome. ( 25208314 )
2015
30
Adrenal insufficiency in association with congenital nephrotic syndrome: a case report. ( 24633749 )
2014
31
Multigene involvement in congenital nephrotic syndrome. ( 24658205 )
2014
32
Congenital nephrotic syndrome and recurrence of proteinuria after renal transplantation. ( 24682440 )
2014
33
Thrombotic complications of neonates and children with congenital nephrotic syndrome. ( 25088336 )
2014
34
Congenital nephrotic syndrome with hypothyroidism: an unusual association. ( 24034205 )
2013
35
Novel and known nephrin gene (NPHS1) mutations in two Greek cases with congenital nephrotic syndrome including a complex genotype. ( 24371179 )
2013
36
Congenital nephrotic syndrome with acute renal failure: questions. ( 21607629 )
2012
37
Discordant expression of a new WT1 gene mutation in a family with monozygotic twins presenting with congenital nephrotic syndrome. ( 21614510 )
2012
38
Rituximab treatment for recurrence of nephrotic syndrome in a pediatric patient after renal transplantation for congenital nephrotic syndrome of Finnish type. ( 21672106 )
2012
39
Mutations in NPHS1 in a Chinese child with congenital nephrotic syndrome. ( 22653594 )
2012
40
Severe immune haemolytic anaemia due to ceftriaxone in a patient with congenital nephrotic syndrome. ( 21450013 )
2011
41
A missense LAMB2 mutation causes congenital nephrotic syndrome by impairing laminin secretion. ( 21511833 )
2011
42
Anemia in congenital nephrotic syndrome: role of urinary copper and ceruloplasmin loss. ( 21636722 )
2011
43
Cardiac findings in congenital nephrotic syndrome. ( 24250960 )
2011
44
Peritubular capillaries are rarefied in congenital nephrotic syndrome of the Finnish type. ( 19225555 )
2009
45
Cytomegalovirus infection and haemophagocytosis in a patient with congenital nephrotic syndrome. ( 19603193 )
2009
46
Glomerular endothelium in kidneys with congenital nephrotic syndrome of the Finnish type (NPHS1). ( 18048423 )
2008
47
Congenital nephrotic syndrome of the finnish type. ( 18560552 )
2008
48
Congenital nephrotic syndrome, an uncommon presentation of cytomegalovirus infection. ( 18626461 )
2008
49
Congenital nephrotic syndrome and persistent hypothyroidism after bilateral nephrectomy. ( 18717247 )
2008
50
Congenital nephrotic syndrome masquerading as respiratory illness. ( 18841537 )
2008

Variations for Familial Nephrotic Syndrome

Expression for Familial Nephrotic Syndrome

Search GEO for disease gene expression data for Familial Nephrotic Syndrome.

Pathways for Familial Nephrotic Syndrome

GO Terms for Familial Nephrotic Syndrome

Cellular components related to Familial Nephrotic Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.76 CD2AP CRB2 KIRREL2 KIRREL3 NPHS1 NPHS2
2 protein-containing complex GO:0032991 9.56 ACTN4 CD2AP CRB2 NPHS2
3 cell-cell junction GO:0005911 9.26 ACTN4 CD2AP KIRREL2 NPHS2
4 slit diaphragm GO:0036057 8.92 KIRREL2 NPHS1 NPHS2 TRPC6

Biological processes related to Familial Nephrotic Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 excretion GO:0007588 9.16 NPHS1 NPHS2
2 glomerular basement membrane development GO:0032836 8.96 NPHS1 WT1
3 glomerulus development GO:0032835 8.62 PLCE1 WT1

Sources for Familial Nephrotic Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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